Varaico: Literature-Extracted Genetic Variants

Gene:PSIP1
Variant:p.L444P
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PSIP1

NM_033222.5:p.L444P

Associated Papers

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder.

Winter AW et al.

The British Journal of Ophthalmology, 2019

Mutational profiles of Brenner tumors show distinctive features uncoupling urothelial carcinomas and ovarian carcinoma with transitional cell histology.

Pfarr N et al.

Genes, Chromosomes & Cancer, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."